ORPHA:1915
Fetal alcohol syndrome
Synonyms: ARND · Alcohol-related birth defects · Alcohol-related neurodevelopmental disorder · FAS · FASD · Fetal alcohol spectrum disorders · ARBD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal alcohol syndrome | ARND · Alcohol-related birth defects · Alcohol-related neurodevelopmental disorder · FAS · FASD · Fetal alcohol spectrum disorders · ARBD |
| fr | Syndrome d'alcoolisation foetale | ACLA · Anomalies congénitales multiples liées à l'alcool · EAF · ETCAF · Effets de l'alcool sur le foetus · Effets de l'alcoolisation foetale · Embryofoetopathie alcoolique · Embryopathie alcoolique · Ensemble des troubles causés par l'alcoolisation foetale · Exposition anténatale à l'alcool · Foetopathie alcoolique · SAF · Syndrome d'alcoolisme foetal · Syndrome de Lemoine · TNDLA · TSAF · Trouble neurologique du développement lié à l'alcool · Troubles du spectre de l'alcoolisation foetale |
| de | Fetales Alkoholsyndrom | Alkoholembryopathie · FASD |
| es | Síndrome alcohólico fetal | Exposición prenatal al alcohol · Síndrome de embriopatía alcohólica |
| it | Embriopatia alcolica | Sindrome feto-alcolica |
| nl | Foetaal alcoholsyndroom | ARBD · ARND · Alcohol-gerelateerde geboortedefecten · Alcohol-gerelateerde neurologische ontwikkelingsstoornis · FAS · FASD · Foetaal alcohol spectrumstoornissen |
| pt | Síndrome alcoólico fetal | Embriofetopatia alcoólica · SAF |
| pl | Alkoholowy zespół płodu | Alkoholowa infekcja płodowa |
| cs | Fetální alkoholový syndrom | ARBD · ARND · Spektrum vrozených alkoholových poruch · Neurovývojová porucha související s alkoholem · FAS · FASD · Spektrum fetálních alkoholových poruch |
| uk | Фетальний алкогольний синдром | Вроджені вади розвитку, повязані з алкоголем · Повязане з алкоголем порушення нейророзвитку · ARBD · АРНД · ФАС · FASD · Фетальний алкогольний синдром |
| zh | 胎儿酒精综合征 | 酒精相关性神经发育障碍 |
| tr | Fetal alkol sendromu | FAS · ARBD · ARND · FASD · Alkol-ilişkili doğum defektleri · fetal alkol spektrum bozuklukları · Alkol-ilişkili nörogelişimsel bozukluk |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.0 | E | specific | validated |
| ICD-11 | LD2F.00 | E | specific | validated |
| MONDO | 0016011 | E | validated | |
| MeSH | D063647 | E | validated | |
| UMLS | C0015923 | E | validated | |
| MedDRA | 10016845 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:251529Toxic or drug-related embryofetopathy
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
16 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8.1 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2006[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13.2 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2007[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | >1 / 1000 | 6800 / 100 000 | South Africa | Value and class | Validated | 17127017[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 13.6 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 80.8 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000275 | Narrow face | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000286 | Epicanthus | |
| HP:0001387 | Joint stiffness | |
| HP:0000691 | Microdontia | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0100761 | Visceral angiomatosis | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002230 | Generalized hirsutism | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1915
- This record as JSON: /data/d/1915.json